METHYLATION AND MUTATION PATTERNS IN THE FRAGILE-X SYNDROME

被引：23

作者：

MALMGREN, H

STEENBONDESON, ML

GUSTAVSON, KH

SEEMANOVA, E

HOLMGREN, G

OBERLE, I

MANDEL, JL

PETTERSSON, U

DAHL, N

机构：

[1] BIOMED CTR, DEPT MED GENET, BOX 589, S-75123 UPPSALA, SWEDEN

[2] UNIV HOSP UPPSALA, DEPT CLIN GENET, UPPSALA, SWEDEN

[3] UNIV HOSP UMEA, DEPT CLIN GENET, UMEA, SWEDEN

[4] CHARLES UNIV, DEPT MED GENET, CS-11636 PRAGUE 1, CZECHOSLOVAKIA

[5] CNRS, GENET MOLEC EUCARYOTES LAB, INSERM 184, STRASBOURG, FRANCE

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1992年 / 43卷 / 1-2期

关键词：

FRAGILE-X SYNDROME; METHYLATION; MUTATION; MOLECULAR HETEROGENEITY;

D O I：

10.1002/ajmg.1320430142

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Chromosomes carrying the mutation causing the fragile X [fra(X)] syndrome have been shown to have an unstable DNA sequence close to or within the fragile site. The length variation is located within a DNA fragment containing a CGG trinucleotide repeat which is unstable in both mitosis and meiosis. We have used the probe StBl2.3 from the region to analyze the mutations and the methylation patterns in 21 families segregating for the fra(X) syndrome. Among 40 fra(X) males all showed an abnormal pattern. The normal 2.8 kb band was absent in 36 individuals and replaced by a heterogeneous smear of larger size.

引用

页码：268 / 278

页数：11

共 17 条

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